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Final Reminder: 2014 IACC Call for Nominations Closes Friday, November 14, 2014!

13 Nov

The email below was just sent by the Office of Autism Research Coordination to remind the communities that the Interagency Autism Coordinating Committee is being reformed–nominations are still open but only until tomorrow.

In other words: if you want to be considered, or if you want to nominate someone else for consideration, now is the time to get those nominations in.

From OARC:

Final Reminder: 2014 IACC Call for Nominations Closes Friday, November 14, 2014!

Only one more day to send in submissions!

The Office of the Secretary of Health and Human Services (HHS) is seeking nominations of individuals to serve as non-federal public members on the Interagency Autism Coordinating Committee, a federal advisory committee established in accordance with the Combating Autism Act of 2006 (Public Law 109-416, PDF – 49 KB) and reauthorized by the Autism Collaboration, Accountability, Research, Education and Support Act of 2014 (Public Law 113-157, PDF – 211 KB).  The Committee, composed of federal officials and public stakeholders, provides recommendations and advice to the Secretary of HHS regarding issues related to autism spectrum disorder (ASD), including ASD research and services activities.

The Office of the Secretary of HHS has directed the Office of Autism Research Coordination to assist the Department in conducting an open and transparent nomination process. Nominations of new public members are encouraged, and current members may also be re-nominated to continue to serve. Self-nominations and nominations of other individuals are both permitted. Final selections and appointments of public members will be made by the Secretary. The period of service will be from the time of appointment through September 30, 2019.

The call for nominations opened on October 1, 2014 and will close at the end of the day (11:59 p.m.) on November 14, 2014. Please ensure e-mails or standard mail/Fedex are sent and date and time stamped by the given deadline.

Please click on the links below for information about the committee, and the requirements and instructions for submitting a nomination.

IACC Co-occurring conditions workshop: Lewin Group presentation on co-occurring conditions in autistic children in the U.S.

4 Nov

Anjali Jain of the Lewin group presented on data they have collected from medical records about the prevalence of co-occurring conditions found in autistic children in the U.S.. This presentation was made to the Interagency Autism Coordinating Committee in Sept. 2014. (the original video is here, and the Lewin Group talk started at about timestamp 17:50.  The original has closed captioning).

Some of the most common co-occurring conditions are anxiety and depression. In fact, mental health conditions are found in about 70% of autistics. Similarly, neurological conditions and neurodevelopmental disorders are found in about 70% of autistics. By comparison, GI+nutritional disorders (which include areas like allergies), which get a great deal of attention, are found in about 20% of the autistic population. While large, this is much less common than the 70% rates found for mental health and neurodevelopmental disorders.

Another interesting finding was that autistic children are seen more often for treatment of infectious diseases. If the risk for serious problems from infectious diseases is higher in autistic children, this makes the decision of many autism parents to stop vaccinating their children even more problematic.

The full video (with closed captioning) can be found here:

http://videocast.nih.gov/launch.asp?18636


By Matt Carey

Presentations made to the Interagency Autism Coordinating Committee (IACC)

4 Nov

The U.S. Interagency Autism Coordinating Committee (IACC) holds regular meetings. Each IACC meeting typically has presentations by experts in various fields of autism research and services. Video of the meetings is made available by the NIH. For example the IACC workshop on under recognized and co-occurring conditions in ASD is there. It can be somewhat inaccessible in that the entire meeting is 7 hours long (and so is the video) while each talk was typically 10 minutes. In other meetings the talks have been longer, but it seems to me that some may find it valuable to have access to the individual talks. With that in mind, I have been pulling some of the meeting videos and cutting the talks out and posting to YouTube. I will post these talks as I get time.

The first set will be the epidemiology talks presented at the recent Workshop. One by the Anjali Jain of the Lewin Group, one by Lisa Croen of Kaiser Permanente, one by Isaac Kohane of Harvard University, and one by Daniel Coury of The Ohio State University.

By Matt Carey

Press Release: IACC Reauthorized by Autism CARES Act to Continue Through 2019; HHS Seeks Nominations for Public Membership

1 Oct

Below is a press release about the nomination process for the next Interagency Autism Coordinating Committee (IACC).  Note: I served as a public member to the previous IACC but my comments here and elsewhere are my own.

IACC Reauthorized by Autism CARES Act to Continue Through 2019; HHS Seeks Nominations for Public Membership (PDF – 94 KB)

On August 8, 2014, President Obama signed the Autism Collaboration, Accountability, Research, Education and Support (CARES) Act of 2014 (PDF – 256 KB) into law, reauthorizing and expanding the provisions of the Combating Autism Act of 2006 (PDF – 142 KB). New provisions include an increased focus on services and supports, a report on the needs of transitioning youth and adults, and the creation of an Autism Initiative within the Department of Health and Human Services to ensure accountability and ongoing implementation of autism activities across the Department. The new law also reauthorizes the Interagency Autism Coordinating Committee (IACC) to continue until September 30, 2019.

The IACC is a federal advisory committee composed of federal officials and non-federal public members, including autism self-advocates, family members, representatives of private autism organizations, and other public stakeholders. The committee is charged with:

  • Providing annual updates on its Strategic Plan for Autism Spectrum Disorder (ASD) Research, which under the new law will be expanded to include recommendations on services and supports provision;
  • Providing annual updates on its Summary of Advances in ASD Research, a document that summarizes each year’s top ASD research advances;
  • Providing advice and recommendations to the HHS Secretary regarding issues related to ASD;
  • Providing a forum for public discussion of issues related to ASD.

As a federal advisory committee, the IACC does not have authority or appropriations to fund research or services activities, nor to implement federal programs. The IACC’s role is to provide advice that can be used by federal agencies to guide them in setting program and funding priorities, and in developing partnerships with private organizations to address issues of importance to the autism community.

Under the Combating Autism Reauthorization Act of 2011 (covering the period from 2011-2014, PDF – 121 KB), the IACC completed several important projects, including issuing: a letter to HHS Secretary Kathleen Sebelius regarding the need to fill critical gaps in health coverage for people on the autism spectrum; a statement from the Committee on the 2012 update in the ASD diagnostic criteria, which emphasized the importance of basing healthcare and service provision decisions on the need of the individual; and an in-depth 2013 IACC Strategic Plan Update that analyzed progress made over a five-year period (2008-2012) toward implementing the recommendations in the IACC Strategic Plan.

Reflecting on the completion of the current IACC members’ terms on September 30, 2014, IACC Chair Dr. Thomas Insel stated, “We deeply appreciate the contributions and accomplishments of the IACC members who served on the Committee from 2012-2014, and we look forward to working with the new committee, starting in 2015, to address the community’s most pressing ASD research and services needs.”

The Autism CARES Act extends the work of the IACC another 5 years to 2019. The Department of Health and Human Services (HHS) is currently seeking nominations of individuals to serve as non-federal public members on the next iteration of the committee. Members of the public are welcome to nominate individuals with personal and/or professional experience with ASD for public membership on the committee. The Office of Autism Research Coordination (OARC) at the National Institutes of Health, which manages the IACC, will assist the Department in collecting public member nominations. Selections and appointments of public members will be made by the Secretary of Health and Human Services.

For more information on the IACC public member nomination process, please see the 2014 IACC Call for Nominations Announcement.***

The IACC is a federal advisory committee that was created by Congress in an effort to accelerate progress in ASD research and services. The IACC provides advice to the U.S. Department of Health and Human Services on activities related to ASD, and works to improve coordination and communication across the Federal government and work in partnership with the autism community. The Committee is composed of officials from many different federal agencies involved in autism research and services, as well as people with ASD, parents, advocates, and other members of the autism community. The documents and recommendations produced by the IACC reflect the views of the Committee as an independent advisory body and the expertise of the members of the Committee, but do not represent the views, official statements, policies or positions of the Federal government. For more information on the IACC, please visit: www.iacc.hhs.gov.

Interagency Autism Coordinating Committee 2014 Call for Nominations Announcement

1 Oct

Below is the call for nominations announcement for membership in the next IACC.

Note: I served as a public member to the IACC in the last term, but my comments here and elsewhere are my own.

Interagency Autism Coordinating Committee
2014 Call for Nominations Announcement

Introduction

The Interagency Autism Coordinating Committee (IACC), established in accordance with the Combating Autism Act of 2006 (Public Law 109-416, PDF – 49 KB) and reauthorized by the Autism Collaboration, Accountability, Research, Education and Support Act of 2014 (Public Law 113-157, PDF – 211 KB), is open from October 1, 2014- November 14, 2014 for nominations of individuals to serve as non-federal public members on this committee (see press release). The Secretary of Health and Human Services (Secretary), who will make the final selections and appointments of non-federal public members, has directed the Office of Autism Research Coordination (OARC) to assist the Department in conducting an open and transparent nomination process.

Who Is Eligible?

Nominations of new non-federal public members are encouraged, but current non-federal public members may also be re-nominated to continue to serve. Self-nominations and nominations of other individuals are both permitted. Only one nomination per individual is required. Multiple nominations for the same individual will not increase likelihood of selection. The Secretary may select non-federal public members from the pool of submitted nominations and other sources as needed to meet statutory requirements and to form a balanced committee that represents the diversity within the autism spectrum disorder (ASD) community. Those eligible for nomination include leaders or representatives of major ASD research, advocacy and service organizations, parents or guardians of individuals with ASD, individuals on the autism spectrum, healthcare and service providers, educators, researchers and other individuals with professional or personal experience with ASD. In accordance with White House Office of Management and Budget guidelines (FR Doc. 2014–19140), federally-registered lobbyists are not eligible.

Responsibilities of Appointed Non-Federal Public Members

As specified in the Committee’s authorizing statute (section 399CC of the Public Health Service Act, 42 U.S.C. 280i-2, as amended), the Committee will carry out the following responsibilities: (1) monitor autism spectrum disorder research, and to the extent practicable, services and support activities, across all relevant Federal departments and agencies, including coordination of Federal activities with respect to autism spectrum disorder; (2) develop a summary of advances in autism spectrum disorder research related to causes, prevention, treatment, early screening, diagnosis or ruling out a diagnosis; interventions, including school and community-based interventions, and access to services and supports for individuals with autism spectrum disorder; (3) make recommendations to the Secretary regarding any appropriate changes to such activities, including with respect to the strategic plan; (4) make recommendations to the Secretary regarding public participation in decisions relating to autism spectrum disorder, and the process by which public feedback can be better integrated into such decisions; (5) develop a strategic plan for the conduct of, and support for, autism spectrum disorder research, including, as practicable, for services and supports, for individuals with an autism spectrum disorder and the families of such individuals, which shall include (A) proposed budgetary requirements; and (B) recommendations to ensure that autism spectrum disorder research, and services and support activities to the extent practicable, of the Department of Health and Human Services and of other Federal departments and agencies are not unnecessarily duplicative; and (6) submit to Congress and the President: (A) an annual update on the summary of advances; and (B) an annual update to the strategic plan, including any progress made in achieving the goals outlined in such strategic plan.

Committee Composition

In accordance with the Committee’s authorizing statute, “Not more than 1/2, but not fewer than 1/3, of the total membership of the Committee shall be composed of non-Federal public members appointed by the Secretary.”

All non-Federal public members are appointed as Special Government Employees for their service on the IACC, of which:

  • At least two such members shall be individuals with a diagnosis of autism spectrum disorder;
  • At least two such members shall be parents or legal guardians of an individual with an autism spectrum disorder; and
  • At least two such members shall be representatives of leading research, advocacy, and service organizations for individuals with autism spectrum disorder.

The Department strives to ensure that the membership of HHS Federal advisory committees is fairly balanced in terms of points of view represented and the committee’s function. Every effort is made to ensure that the views of women, all ethnic and racial groups, and people with disabilities are represented on HHS Federal advisory committees and, therefore, the Department encourages nominations of qualified candidates from these groups. The Department also encourages geographic diversity in the composition of the Committee. Appointment to this Committee shall be made without discrimination on the basis of age, race, ethnicity, gender, sexual orientation, disability, and cultural, religious, or socioeconomic status. Requests for reasonable accommodation to enable participation on the Committee should be indicated in the nomination submission.

Member Terms

Non-Federal public members of the Committee “shall serve for a term of 4 years, and may be reappointed for one or more additional 4-year terms… Any member appointed to fill a vacancy for an unexpired term shall be appointed for the remainder of such term. A member [with a valid appointment] may serve after the expiration of the member’s term until a successor has been appointed.”

Meetings and Travel

“The Committee shall meet at the call of the chairperson or upon the request of the Secretary. The Committee shall meet not fewer than 2 times each year.”

In the years 2008-2014, the IACC held an average of 16 meetings, workshops and phone conferences per year, including full committee, subcommittee, working and planning group meetings, and workshops. Travel expenses are provided for non-federal public Committee members to facilitate attendance at in-person meetings.

Submission Instructions and Deadline

Nominations should include a cover letter of no longer than 3 pages describing the candidate’s interest in seeking appointment to the IACC, including relevant personal and professional experience with ASD, as well as contact information and a current curriculum vitae or resume. Up to 2 letters of support are permitted in addition to the nomination, with a page limit of 3 pages per letter. Please do not include other materials unless requested.

Nominations are due by 12:00 midnight Eastern Friday, November 14, 2014 and may be sent to Dr. Susan Daniels, Director, Office of Autism Research Coordination/NIMH/NIH, 6001 Executive Boulevard, Room 6184, Bethesda, Maryland 20892 by standard or express mail, or via e-mail to IACCPublicInquiries@mail.nih.gov.

More information about the IACC is available at www.iacc.hhs.gov.

Medicaid will start paying for autism therapies

26 Jul

Medicaid will start paying for autism therapies. The news was released at the last IACC meeting and I’ve been trying to work out how best to write it since. Seems pretty straightforward, doesn’t it? Not to take anything away from the person who presented it at the meeting but after a while of hearing things like:

Those categories include: section 1905(a)(6) – services of other licensed practitioners; section 1905(a)(13)(c) – preventive services; and section 1905(a)(10)- therapy services.

I just get saturated with the 1915(a) vs 1915(i) type language.

Here’s the announcement: Clarification of Medicaid Coverage of Services to Children with Autism

Here’s one of the first paragraphs:

The federal Medicaid program may reimburse for services to address ASD through a variety of authorities. Services can be reimbursed through section 1905(a) of the Social Security Act (the Act), section 1915(i) state plan Home and Community-Based Services, section 1915(c) Home and Community-Based Services (HCBS) waiver programs and section 1115 research and demonstration programs.

See what I mean? Take from this “the federal Medicaid program may remburse for services to address ASD”

How did this come to pass? A lot of people have been pressuring medicaid for some time to provide autism services. This includes lawsuits, like this one in Florida (Judge: Florida Medicaid Must Cover Therapy for Autism).

If you listen in or watch the IACC meetings, you know that for the past few years one of the sources of pressure on Medicaid has been from IACC member Idil Abdul. I don’t know if a meeting has gone by where Idil hasn’t talked about the inequities of a system where we say we will give medical support to our disabled poor, but we withhold support for treatments related to their disability. Or, to put it simply: why should kids with private insurance get speech, OT and other services while other kids don’t under medicaid?

People often ask what is the value of the IACC and here is one of those unquantifiable benefits. Idil did what a public representative to a federal committee should do: she informed federal members of the needs of the community. Across the table from her was John O’Brien of Medicare and Medicaid Services. John is a good guy and would often patiently correct some factual errors in what Idil had said. But he had to listen to Idil.

And for those of us who know Idil, when I say “she informed federal members” you have to know that “informed” is a major understatement.

Would this shift in Medicaid policy have happened without Idil? It was a big group effort as I’ve already said. Would it have happened later without Idil? We can’t rerun the experiment.

Just to be clear–this wasn’t an effort of the IACC. This was an effort of a member of the IACC. Made possible by her being on the IACC. It’s an odd distinction, but an important one. The structure congress created of the IACC got Idil’s voice in the right place at the right time.

While on the subject of distinctions: as always, my comments are my own and they do not represent the views of the IACC.


By Matt Carey

More of that vaccine/autism research that doesn’t exist

17 Jul

There are some parents who want research on vaccines and autism. I may not agree that this is the best way to spend our limited resources, but there’s no denying that this group exists and is very vocal. One thing that surprises me is that these parents appear to be unaware of vaccine/autism research that is ongoing. Not just the studies that come out that show us over and over again that autism risk is not increased by vaccines. But other projects. Biology. Studies on regression. And more. I pointed out recently that using NIH Reporter, one can find a number of projects on autism and vaccines or autism and mercury.

But NIH is not the only Federal agency funding autism research. And there are private funders as well. As I mentioned in my previous article, another place to look for funded research projects is the IACC/OARC Autism Spectrum Disorder Research Portfolio Analysis Web Tool as this includes work the various groups represented on the IACC–both Federal and Private. Unfortunately, this tool only has 2008, 2009 and 2010 projects (had the GAO not required OARC to provide a lot of information last year, perhaps this tool would be updated by now. But such is the government.) But, even with this limitation in years, let’s see what projects come up with searches for vaccines or mercury. I’ll give the titles first, and then the abstracts for these projects below.

It’s understandable that parent advocates are not aware of these projects. I’ve written about this before (“What projects are being funded in autism research? Part 1: vaccines and GI issues”) but I think it’s safe to say that parents who believe in the vaccine/autism connection do not frequent Left Brain/Right Brain. There are places on the web that carry that message (for example, the Age of Autism blog and the sites of the organizations that sponsor it). They aren’t telling their constituencies about the ongoing research efforts. As an example, as I was finishing this article, SafeMinds came out with a letter discussing how no work is being performed on vaccines and autism.

Again, this list is only for 2008, 2009 and 2010. More recent projects from NIH were discussed here.

Vulnerability phenotypes and susceptibility to environmental toxicants: From organism to mechanism (funded by Autism Speaks)

Evaluation of the immune and physiologic response in children with autism following immune challenge (funded by Autism Speaks)

Vaccination with regression study (funded by Autism Speaks)

Vaccine safety datalink thimerosol and autism study (Federally Funded)

Analysis of developmental interactions between reelin haploinsufficiency, male sex, and mercury exposure (Funded by Autism Speaks)

MeHG stimulates antiapoptotic signaling in stem cells (Federally funded: DoD)

Etiology of autism risk involving MET gene and the environment (Funded by Autism Speaks)

Epidemiological research on autism in Jamaica (Federally Funded, NIH)

investigation on the potential harmful effects of mercury in the nonhuman primate (Funded by SafeMinds)

Investigating the effect of mercury on ASD, AD and ASD regression (Funded by SafeMinds)

The effect of mercury and neuropeptide triggers on human mast cell release of neurotoxic molecules (Funded by SafeMinds)

Does mercury and neurotension induce mitochondrial DNA release from human mast cells and contribute to auto-immunity in ASD? (Funded by SafeMinds)

Toxicant-induced autism and mitochondrial modulation of nuclear gene expression (Federally Funded: DoD)

Below are the abstracts for these research projects.

Vulnerability phenotypes and susceptibility to environmental toxicants: From organism to mechanism (funded by Autism Speaks)

One hypothesis regarding the association between genetic changes, environmental factors and autism is that many mutations or polymorphisms make the organism more vulnerable to later exposure in some individuals. Called the “vulnerability phenotype”, the Noble lab hypothesizes that one potential unifying theme of the vulnerability phenotype of children with ASD is that they are more oxidized. This elevated oxidation state has been shown to be sufficient to cause dramatic changes in cellular function. In this project, Dr. Noble will test the hypotheses that genetically-based differences in oxidative status are associated with differences in vulnerability to physiological stressors in vitro and in vivo, with even greater increases in vulnerability to combinations of physiological stressors. Specifically, thimerosal and other vaccine adjuvants will be studied. The second part of the study will determine if these effects on a novel regulatory pathway called redox/Fyn/c-Cbl is a necessary mechanistic convergence for increases in vulnerability caused by a more oxidized metabolic status. These results will provide a better understanding of the biochemical effects and mechanisms of possible toxicity of vaccines and vaccine additives. What this means for people with autism: These studies will initially focus on the combination of vaccine additives, but then examine whether a background genetic vulnerability phenotype affects the response to these additives. The results would provide new targets for intervention against the adverse effects of increased oxidative status in children with autism.


Evaluation of the immune and physiologic response in children with autism following immune challenge
(funded by Autism Speaks)

The overall goal of this proposal is to address immune function in children with autism, including the response to vaccine challenge, and how that relates to behavior. Evidence suggests that autism is associated in some cases with altered immune function, but the response of the immune system in children with autism to specific immune challenges, such as vaccines, has not been investigated directly. While it has been reported that some children with autism respond poorly following vaccination with symptoms ranging from rash, diarrhea, irritability, seizures, and loss of skills, no careful, thorough approach has been undertaken to fully characterize this issue, both at the biology and behavior level. We propose to use our current CHARGE (Childhood Autism Risks from Genetics and the Environment) and Autism Phenome Project (APP) study population to address this critical issue. The overall approach would include an examination of the immune response to both viral and bacterial vaccines in children with autism, as compared to typically developing age-matched controls, in real time following vaccination at 5 years of age. Vaccines have advantages for directly studying the immune response as they provide a known, scheduled immune challenge, whose dose is well characterized – making it possible to collect and interpret immune response data at the time that it occurs. Therefore, we think that exposure to an immune challenge with vaccine would result in an increase in inflammation compared to controls in a subpopulation of children with autism. However, we also anticipate that some children will respond to vaccine challenge differently, depending on form of the vaccine, i.e. viral vs. bacterial. Thus, we propose to address the issue of immune function in children with autism through a careful analysis of the immune system, medical and mitochondrial issues, and behavioral response to both viral and bacterial vaccines.

Vaccination with regression study (funded by Autism Speaks)

A major challenge to studying autism with a suspected vaccine-related regression is identifying children with acute regressive-type symptoms following MMR vaccination; there are no specific codes, tests, or procedures that identify this occurrence with a high degree of specificity. This study will explore the Kaiser Permanente electronic databases to ascertain whether we can identify children with regressive type autism and identify the timing of the regression in relation to the period directly following MMR vaccination. In order to see if identification of regressive autism from medical records is possible, the investigators will attempt to identify children vaccinated with MMR who then abruptly undergo a ‘cluster’ of visits, tests, and/or procedures in the time period directly following vaccination. The researchers feel that there may be a number of children who receive a diagnosis (such as ‘prolonged crying’) in the emergency department on the day after vaccination, followed shortly thereafter (1-2 days later) by another set of diagnoses (such as ‘fever’ & ‘irritability’) in the pediatric office or other outpatient department, and then receive either diagnostic or laboratory tests indicating (at least) a moderate degree of severity of concern, such as CT scans, metabolic testing, or referral to neurology. If this study is successful in using medical databases to identify a specific group of children with demonstrable autism-related regression that clearly follows vaccination, it may point to the feasibility of further studies concentrating on this specific population.

Vaccine safety datalink thimerosol and autism study (Federally Funded)

The Thimerosal and Autism Study is a case-control study conducted in three U.S. managed care organizations (MCOs). Data collection began in 2005 and took three years to complete. In this study, children who were diagnosed with autism were matched with control children. The autism diagnosis of the case samples was confirmed by a standardized clinical assessment protocol. Vaccination histories and information on other potential confounding factors were confirmed by reviewing the medical records for all children. In addition, the mothers of both cases and matched controls were interviewed.

Analysis of developmental interactions between reelin haploinsufficiency, male sex, and mercury exposure (Funded by Autism Speaks)

This project will investigate the role of three separate factors in an animal model of autism spectrum disorder: a) genetic susceptibility, b) hormonal environment, and c) possible environmental triggers. A mouse model with a mutation of the reelin gene, implicated in autism spectrum disorders, will be studied after exposure to methyl and ethyl mercury. Both behaviors and neuropathological endpoints will be explored. Finally, the role of endogenous sex hormones will be examined by eliminating the testosterone “surge” around the time of puberty. The individual effects of each will be examined, as well as the interaction of the three components (genetic liability, environmental exposure, hormonal influences) to determine gene x environment interactions. What this means for people with autism: This study will use a unique design to study multiple factors in the etiology of autism spectrum disorder in a mouse model, isolating and combining factors which previously have been implicated in the pathophysiology and behavioral phenotype.

MeHG stimulates antiapoptotic signaling in stem cells (Federally funded: DoD)

This project is a study of the antiapoptotic effect of low concentration of methly mercury and cadmium in cells.

Etiology of autism risk involving MET gene and the environment (Funded by Autism Speaks)

Two independent lines of evidence indicate that the maternal immune system and a functional genetic variant contribute to autism spectrum disorder (ASD) risk. Here, the Van De Water lab will partner with scientists at Vanderbilt University to examine whether these two seemingly unrelated contributions may converge to define a unique ASD susceptibility. Preliminary evidence collected by the Van De Water lab indicates an association between the Mesenchymal epithelial transition factor (MET) gene ‘C’ type, which reduces MET protein expression, and the presence of specific maternal anti-fetal brain autoantibodies. This relationship suggests that this as a pathway for production of the maternal autoantibodies, leading to a gene x environment interaction underlying ASD susceptibility. The next line of experiments will examine the relationship in an even larger sample and assess the functional effect of the MET gene polymorphism on immune cell activity as well as further examine the impact of environmental toxins (including ethyl mercury) on the gene expression-dependent function of maternal immune cells.

Epidemiological research on autism in Jamaica (Federally Funded, NIH)

The prevalence of autism spectrum disorders (ASD) appears to be on the rise in developed countries and has become a serious public health concern. In most developing countries, however, the nature and prevalence of factors associated with ASDs are unknown. The long term goal of this planning project is to develop capacity for conducting large scale population-based ASD studies in Jamaica. First, the diagnostic criteria used in Jamaica and the United States will be compared. Then, questionnaires regarding the demographic and socioeconomic position, occupation, and drinking habits of each child’s parents will be used, and information will be gathered about family history of developmental disorders, family size, birth order of the affected child, and whether the child is taking any medications. An age and sex matched case-control study, including a dietary questionnaire, will also be conducted to investigate whether environmental exposures to mercury, lead, arsenic, and cadmium play a role in autism. Blood and saliva samples will be collected to determine if any DNA polymorphisms that might affect interactions with heavy metals are present in children with ASD. New knowledge of potential environmental risk factors for ASD may arise from this research, thereby reducing physical, psychological, and economic burdens on the child, family, and society and helping parents make decisions about avoiding exposure to environmental contaminants.

An investigation on the potential harmful effects of mercury in the nonhuman primate (Funded by SafeMinds)

An investigation into the effect of mercury on neurons, astrocytes, and microglia on the central nervous system of the nonhuman primate.

Investigating the effect of mercury on ASD, AD and ASD regression (Funded by SafeMinds)

An investigation into the influences of demographics and environmental variables in the development of neurodevelopmental problems such as AD, ASD, and ASD-regression

The effect of mercury and neuropeptide triggers on human mast cell release of neurotoxic molecules (Funded by SafeMinds)

An investigation to determine the pro-inflammatory effects of mitochondrial DNA with and without mast cell triggers.

Does mercury and neurotension induce mitochondrial DNA release from human mast cells and contribute to auto-immunity in ASD? (Funded by SafeMinds)

Further investigation into preliminary data that neurotensin (NT) stimulates mast cell activation and that NT is elevated in young children with autism spectrum disorder.

Toxicant-induced autism and mitochondrial modulation of nuclear gene expression (Federally Funded: DoD)

Autism has been associated with epigenetic changes: Tiny chemical tags in the regulatory regions of genes that affect how genes express themselves by turning them on or off. One gene often decreased in expression in the brain tissue of autistic individuals is MECP2, a gene that governs the expression of genes crucial to brain development. Exposure to environmental pollutants is also thought to play a role in autism. These two phenomena both involve a small cellular organ called mitochondria. The suspect environmental pollutants are toxic to mitochondria, which play a critical role in epigenetics: Pollution exposure can lower the amount of mitochondrial DNA (mtDNA) in a cell, causing an increase in placement of epigenetic tags by DNMT1 that leads to gene silencing. We hypothesize that exposure during pregnancy to pollutants toxic to mitochondria causes a decrease in mtDNA copy number and increased placement of epigenetic tags by DNMT1 on key developmental genes, affecting pathways that have direct roles in the development of autism. We will expose mice, during pregnancy, to selected toxicants and evaluate adult behavior and associated biochemical changes in brain tissue. Valproic acid will be used as a positive control, with saline as a negative control. The environmental pollutants lead, arsenic, cadmium, manganese, mercury, and permethrin will be investigated for their potential to induce autistic behavior changes. Brain tissue will then be used for molecular studies of mtDNA copy number, expression of DNMT1, and alterations to the epigenome on both a genomewide and gene-specific level.


By Matt Carey

Note: I serve as a public member to the IACC. My views here and elsewhere are my own, not those of the Committee.